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12:112241766 G / A


Warning! This variant is only covered in 44112 individuals (adjusted allele number = 88224).
This means that the site is covered in fewer than 80% of the individuals in ExAC, which may indicate a low-quality site.


Filter Status
PASS
dbSNP
rs671
Allele Frequency
0.02129
Filtering AF
0.256 (East Asian)
Allele Count
1878 / 88224
UCSC
12-112241766-G-A
ClinVar
Click to search for variant in Clinvar
Note: Plot may include low-quality genotypes that were excluded from allele counts in the table above

Note: These are site-level quality metrics: they may be unpredictable for multi-allelic sites.

Annotations

This variant falls on 4 transcripts in 1 genes:

Note: This list may not include additional transcripts in the same gene that the variant does not overlap.
Population Frequencies
Population Allele Count Allele Number Number of Homozygotes Allele Frequency
European (Non-Finnish) 3 48388 0 6.2e-05
East Asian 1860 6992 214 0.266
Other 3 668 0 0.004491
African 1 7614 0 0.0001313
Latino 8 7302 0 0.001096
South Asian 3 12706 0 0.0002361
European (Finnish) 0 4554 0 0
Total 1878 88224 214 0.02129

Read Data

This interactive IGV.js visualization shows reads that went into calling this variant.
Note: These are reassembled reads produced by GATK HaplotypeCaller --bamOutput so they accurately represent what HaplotypeCaller was seeing when it called this variant.